The prevalence of muscular dystrophy and spinal muscular atrophy in Croatia: data from national and non-governmental organization registries

• Published in: Croatian medical journal 2019-12, Vol.60 (6), p.488-493
• Main Authors: Draušnik, Željka, Cerovečki, Ivan, Štefančić, Vesna, Mihel, Sandra, Stevanović, Ranko, Barišić, Nina, Matković, Hana, Melša, Matea, Mirić, Marica, Pjevač, Neda, Benjak, Tomislav
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Age Distribution; Aged; Care and treatment; Child; Child, Preschool; Croatia - epidemiology; Epidemiology; Female; Government Agencies; Health care industry; Humans; Infant; Infant, Newborn; Male; Medical research; Middle Aged; Muscular atrophy; Muscular Atrophy, Spinal - epidemiology; Muscular Dystrophies - epidemiology; Muscular dystrophy; Nongovernmental organizations; Organizations; Prevalence; Primary health care; Referral and Consultation; Registries; Sex Distribution; Spinal muscular atrophy; Young Adult
• ISSN: 0353-9504; 1332-8166
• DOI: 10.3325/cmj.2019.60.488

To determine the prevalence of muscular dystrophy (MD) and spinal muscular atrophy (SMA) in Croatia by use of multiple epidemiological tools. This epidemiological study collected data from three national patient registries and one database of a non-governmental organization (NGO) of MD and SMA patients. The study involved all individuals who either had undergone hospital treatment for MD or SMA, had consulted their primary health care providers for MD- and SMA-related symptoms, were listed as disabled due to MD or SMA, or were members of the mentioned NGO in 2016. In order to prevent double entries, we created a new database of all living individuals, each with a unique identification number. The prevalence rates for 2016 were calculated by age and sex groups. There were 926 patients diagnosed with MD (544 men). Most men diagnosed with MD were in the age group 10-19, whereas most women were in the age group 50-59. MD prevalence in Croatia was 22.2 per 100000 population. There were 392 patients diagnosed with SMA (198 men). Most men with SMA were in the age group 50-59, whereas most women were in the age group 60-69. SMA prevalence in Croatia was 9.3 per 100000 population. SMA prevalence rate in Croatia is similar to SMA prevalence worldwide. However, MD prevalence rate is higher than worldwide estimates. This difference could be attributed to the fact that we could not confirm whether every patient registered in these databases actually met the diagnostic criteria for MD and SMA.